Associated Papers
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.
Ha ZY et al.
Genes, 2024
38674395 (PubMed )
Supplement: genes-15-00461-s001.zip › genes-2928487-supplementary.pdf
The detailed obstetric course of the first Japanese patient with AEBP1-related Ehlers-Danlos syndrome (classical-like EDS, type 2).
Sanai H et al.
The Journal of Obstetrics and Gynaecology Research, 2023
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